Allelic spectrum of formiminotransferase‐cyclodeaminase gene variants in individuals with formiminoglutamic aciduria

BACKGROUND: Elevated plasma and urine formiminoglutamic acid (FIGLU) levels are commonly indicative of formiminoglutamic aciduria (OMIM #229100), a poorly understood autosomal recessive disorder of histidine and folate metabolism, resulting from formiminotransferase‐cyclodeaminase (FTCD) deficiency,...

Descripció completa

Guardat en:
Dades bibliogràfiques
Publicat a:Mol Genet Genomic Med
Autors principals: Majumdar, Ramanath, Yori, Andrew, Rush, Peggy W., Raymond, Kimiyo, Gavrilov, Dimitar, Tortorelli, Silvia, Matern, Dietrich, Rinaldo, Piero, Feldman, Gerald L., Oglesbee, Devin
Format: Artigo
Idioma:Inglês
Publicat: John Wiley and Sons Inc. 2017
Matèries:
Clinical Reports
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC5702579/
https://ncbi.nlm.nih.gov/pubmed/29178637
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/mgg3.333
Etiquetes: Afegir etiqueta
Sense etiquetes, Sigues el primer a etiquetar aquest registre!

Ítems similars